Allele Registry

Canonical Allele Identifier: PA915988923

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000209796

ClinVar Variation:

204380

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Gln157Pro	CA354926 NM_001164783.2:c.470A>C